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Article

Identification of a stop codon mutation in exon 2 of the collagen 2A1 gene in a large stickler syndrome family.

American journal of ophthalmology - 1 Nov 2002

Donoso Larry A, Edwards Albert O, Frost Arcilee T, Ritter Robert, Ahmad N Nina, Vrabec Tamara, Rogers Jerry, Meyer David

Abstract excerpt

PURPOSE: To describe the clinical features and identify the mutation responsible for an autosomal dominant vitreoretinal degeneration occurring in a previously unreported large family. DESIGN: Cohort study. METHODS: Family members were evaluated clinically over a 30-year period. Genealogical investigation, genetic linkage to known vitreoretinal degenerations, and mutation screening of the COL2A1 gene were...

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Source

Identifiers

PMID: 12429249
DOI: 10.1016/s0002-9394(02)01638-0

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Identification of a stop codon mutation in exon 2 of the collagen 2A1 gene in a large stickler syndrome family.PMID 12429249Read ↗

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